HPO annotations distribution

HPO Patient percentage
Abdominal aortic aneurysm 5.0
Abnormal aortic morphology 10.0
Vascular dilatation 5.0
Abnormal cardiovascular system morphology 25.0
Abnormal blood vessel morphology 20.0
Aortic aneurysm 5.0
Abnormal systemic arterial morphology 10.0
Abnormal vascular morphology 20.0
Abnormality of the cardiovascular system 25.0
Phenotypic abnormality 100.0
All 100.0
Abnormality of the vasculature 20.0
Abnormal morphology of the great vessels 20.0
Cryptorchidism 20.0
Hydroureter 5.0
Hydronephrosis 10.0
Xerostomia 5.0
Pectus excavatum 5.0
Pectus carinatum 10.0
Congenital hip dislocation 5.0
Oligohydramnios 5.0
Patent ductus arteriosus 5.0
Talipes equinovarus 10.0
Anal atresia 5.0
Prune belly 5.0
Aplasia of the abdominal wall musculature 5.0
Congenital posterior urethral valve 5.0
Slow pupillary light response 5.0
Abnormal external genitalia 20.0
Abnormal oral physiology 5.0
Abnormality of the face 55.00000000000001
Abnormality of the upper urinary tract 15.0
Abnormal skeletal morphology 55.00000000000001
Abnormal ureter morphology 5.0
Abnormality of limbs 60.0
Abnormality of the musculature 15.0
Urethrovesical occlusion 5.0
Urethral obstruction 5.0
Abnormal eye physiology 40.0
Abnormality of the eye 45.0
Abnormal foot morphology 40.0
Abnormality of salivation 5.0
Abnormality of the urethra 10.0
Congenital malformation of the great arteries 10.0
Abnormal sternum morphology 10.0
Abnormality of the lower limb 45.0
Abnormality of the urinary system 20.0
Abnormality of the anus 10.0
Abnormality of the amniotic fluid 15.0
Abnormality of the genitourinary system 25.0
Abnormal hip bone morphology 5.0
Urethral valve 5.0
Abnormality of the head 60.0
Abnormal renal pelvis morphology 10.0
Abnormal pupillary function 5.0
Abnormal axial skeleton morphology 55.00000000000001
Abnormality of the digestive system 15.0
Abnormal testis morphology 20.0
Abnormality of the abdominal wall 5.0
Abnormality of the mouth 40.0
Abnormality of the lower urinary tract 10.0
Hip dislocation 5.0
Positional foot deformity 10.0
Abnormal skeletal muscle morphology 5.0
Abnormal pupillary light reflex 5.0
Abnormality of the ureter 5.0
Abnormal joint morphology 30.0
Abnormal appendicular skeleton morphology 50.0
Abnormal male external genitalia morphology 20.0
Abnormal anus morphology 10.0
Abnormal digestive system morphology 10.0
Abnormality of the kidney 15.0
Abnormal morphology of the abdominal musculature 5.0
Abnormality of head or neck 60.0
Abnormality of the musculoskeletal system 55.00000000000001
Abnormality of the genital system 25.0
Aplasia/Hypoplasia of the abdominal wall musculature 5.0
Abnormal pelvic girdle bone morphology 15.0
Abnormal renal morphology 15.0
Abnormality of lower limb joint 10.0
Lower extremity joint dislocation 5.0
Dilatation of the renal pelvis 10.0
Abnormality of the skeletal system 55.00000000000001
Abnormality of the male genitalia 20.0
Abnormal hip joint morphology 5.0
Abnormality of prenatal development or birth 15.0
Talipes 10.0
Joint dislocation 10.0
Abnormal thorax morphology 15.0
Abnormal reproductive system morphology 25.0
Hip dysplasia 5.0
Strabismus 30.0
Abducens palsy 5.0
Abnormal nervous system physiology 45.0
Abnormality of eye movement 30.0
Cranial nerve paralysis 5.0
Abnormal cranial nerve physiology 5.0
Abnormality of the nervous system 50.0
Abnormal conjugate eye movement 30.0
Cleft palate 20.0
Cleft upper lip 5.0
Microcephaly 10.0
Esotropia 5.0
Microphthalmia 5.0
Hypertension 5.0
Cutis marmorata 5.0
Brachydactyly 25.0
Intellectual disability 30.0
Seizure 10.0
Global developmental delay 10.0
Generalized hypotonia 5.0
Pachygyria 5.0
Calvarial skull defect 5.0
Alopecia 5.0
Ventricular septal defect 10.0
Atrial septal defect 5.0
Tetralogy of Fallot 5.0
Pulmonic stenosis 5.0
Bicuspid aortic valve 5.0
Aortic valve stenosis 5.0
Toe syndactyly 20.0
Small nail 5.0
Hypoplasia of the corpus callosum 10.0
Encephalocele 5.0
Pulmonary arterial hypertension 5.0
Ventriculomegaly 10.0
Polymicrogyria 5.0
Cortical dysplasia 5.0
Supernumerary nipple 5.0
Hypoplastic left heart 5.0
Pulmonary artery stenosis 5.0
Periventricular leukomalacia 5.0
Aplasia cutis congenita on trunk or limbs 5.0
Aplasia cutis congenita over posterior parietal area 5.0
Imperforate hymen 5.0
Abnormality of limb bone 45.0
Abnormal brain morphology 30.0
Orofacial cleft 20.0
Vascular skin abnormality 5.0
Abnormal limb bone morphology 45.0
Abnormal calvaria morphology 40.0
Morphological central nervous system abnormality 35.0
Aplasia/Hypoplasia of the nails 5.0
Lissencephaly 5.0
Localized skin lesion 35.0
Abnormal cortical gyration 5.0
Heterotropia 5.0
Short digit 30.0
Abnormal pulmonary valve physiology 5.0
Abnormal neural tube morphology 10.0
Abnormal cerebral cortex morphology 10.0
Elevated pulmonary artery pressure 5.0
Abnormal heart valve morphology 5.0
Abnormality of skull size 15.0
Neural tube defect 10.0
Abnormal skin morphology 50.0
Abnormal hair quantity 10.0
Abnormal vascular physiology 5.0
Abnormal cardiac septum morphology 10.0
Abnormal toe morphology 25.0
Abnormal aortic valve physiology 5.0
Esodeviation 5.0
Abnormal atrial septum morphology 5.0
Aplasia cutis congenita of scalp 5.0
Neurodevelopmental delay 15.0
Abnormal corpus callosum morphology 15.0
Congenital malformation of the left heart 5.0
Pre-capillary pulmonary hypertension 5.0
Abnormal aortic valve morphology 5.0
Abnormality of the skin 55.00000000000001
Abnormal hair morphology 25.0
Conotruncal defect 5.0
Abnormal upper lip morphology 15.0
Abnormality of the respiratory system 20.0
Abnormal lip morphology 15.0
Abnormality of neuronal migration 5.0
Abnormal systemic blood pressure 5.0
Aplasia cutis congenita 5.0
Abnormal eye morphology 30.0
Abnormal pulmonary artery morphology 5.0
Abnormality of the pulmonary artery 5.0
Abnormal forebrain morphology 20.0
Neurodevelopmental abnormality 35.0
Abnormal cerebral ventricle morphology 25.0
Leukoencephalopathy 5.0
Abnormal connection of the cardiac segments 5.0
Aplasia/Hypoplasia of the corpus callosum 15.0
Abnormal oral cavity morphology 35.0
Craniofacial cleft 20.0
Abnormal respiratory system physiology 20.0
Abnormal nipple morphology 10.0
Abnormal cardiovascular system physiology 5.0
Abnormal nervous system morphology 35.0
Abnormal aortic valve cusp morphology 5.0
Abnormal breast morphology 15.0
Cleft lip 5.0
Abnormal cerebral white matter morphology 15.0
Cephalocele 5.0
Aplasia/Hypoplasia involving the central nervous system 15.0
Abnormality of the pulmonary vasculature 5.0
Abnormal heart morphology 15.0
Abnormality of the female genitalia 10.0
Abnormal periventricular white matter morphology 5.0
Abnormal skull morphology 50.0
Abnormality of pulmonary circulation 5.0
Abnormal cardiac ventricle morphology 10.0
Syndactyly 20.0
Hypoplastic heart 5.0
Abnormal cardiac atrium morphology 5.0
Decreased head circumference 10.0
Hypotonia 10.0
Open neural tube defect 5.0
Abnormal internal genitalia 10.0
Generalized abnormality of skin 5.0
Abnormality of the integument 65.0
Abnormality of mental function 35.0
Abnormal morphology of female internal genitalia 10.0
Abnormal heart valve physiology 5.0
Aplasia/Hypoplasia affecting the eye 5.0
Abnormal ventriculoarterial connection 5.0
Abnormality of globe size 10.0
Abnormal muscle tone 10.0
Aplasia cutis congenita over parietal area 5.0
Abnormal digit morphology 45.0
Abnormal oral morphology 35.0
Abnormality of the breast 15.0
Aplasia/Hypoplasia of the cerebrum 15.0
Abnormal palate morphology 25.0
Thin corpus callosum 15.0
Abnormal cerebral morphology 20.0
Abnormal muscle physiology 10.0
Abnormal cerebral subcortex morphology 15.0
Abnormal lung morphology 10.0
Abnormal respiratory system morphology 20.0
Increased blood pressure 5.0
Aplasia/Hypoplasia of the skin 5.0
Abnormal vagina morphology 10.0
Abnormal ventricular septum morphology 10.0
Abnormal skin adnexa morphology 30.0
Abnormality of the nail 10.0
Acanthosis nigricans 5.0
Thickened skin 15.0
Epidermal thickening 15.0
Brachycephaly 25.0
Micrognathia 15.0
Arachnodactyly 5.0
Joint hypermobility 15.0
Broad skull 5.0
Aplasia/hypoplasia affecting bones of the axial skeleton 25.0
Slender finger 5.0
Abnormal finger morphology 35.0
Abnormality of joint mobility 30.0
Long fingers 10.0
Abnormal joint physiology 30.0
Abnormality of the upper limb 50.0
Abnormal musculoskeletal physiology 35.0
Aplasia/Hypoplasia involving bones of the skull 15.0
Aplasia/Hypoplasia of the mandible 15.0
Abnormality of the hand 50.0
Abnormal jaw morphology 40.0
Abnormal facial skeleton morphology 45.0
Abnormal mandible morphology 35.0
Aplasia/hypoplasia involving the skeleton 40.0
Hydrocephalus 20.0
Macrocephaly 5.0
Malar flattening 20.0
Recurrent otitis media 5.0
Conductive hearing impairment 5.0
Choanal stenosis 15.0
Short ribs 5.0
Motor delay 5.0
Megalencephaly 10.0
Limited elbow extension 5.0
Polyhydramnios 10.0
Premature rupture of membranes 5.0
Frontal bossing 10.0
Pulmonary hypoplasia 5.0
Respiratory distress 5.0
Brain stem compression 5.0
Small foramen magnum 5.0
Generalized joint hypermobility 5.0
Upper airway obstruction 5.0
Lumbar hyperlordosis 5.0
Genu varum 5.0
Femoral bowing 5.0
Radial bowing 5.0
Flared metaphysis 5.0
Ulnar bowing 5.0
Limited hip extension 5.0
Short femur 5.0
Narrow greater sciatic notch 5.0
Trident hand 5.0
Severe platyspondyly 5.0
Thoracic hypoplasia 5.0
Depressed nasal bridge 20.0
Spinal stenosis with reduced interpedicular distance 5.0
Lumbar kyphosis in infancy 5.0
Narrow vertebral interpedicular distance 10.0
Rhizomelia 10.0
Neonatal short-limb short stature 5.0
Infantile muscular hypotonia 5.0
Midface retrusion 15.0
Feeding difficulties 5.0
Short femoral neck 5.0
Abnormality of body height 30.0
Aplasia/hypoplasia involving bones of the lower limbs 20.0
Abnormal forearm bone morphology 25.0
Abnormality of upper limb joint 25.0
Abnormality of the ear 25.0
Abnormality of digestive system physiology 5.0
Hearing abnormality 25.0
Abnormality of the elbow 20.0
Limited hip movement 5.0
Abnormal cerebrospinal fluid morphology 20.0
Abnormal shape of the radius 5.0
Abnormality of the nose 35.0
Abnormal pattern of respiration 5.0
Disproportionate short-limb short stature 15.0
Abnormal ear physiology 25.0
Growth delay 25.0
Abnormal midface morphology 25.0
Otitis media 10.0
Abnormal lumbar spine morphology 5.0
Short long bone 15.0
Short stature 25.0
Vertebral arch anomaly 10.0
Aplasia/Hypoplasia involving the pelvis 5.0
Aplasia/Hypoplasia of the ribs 5.0
Platyspondyly 5.0
Abnormality of the forehead 25.0
Increased inflammatory response 10.0
Abnormal knee morphology 5.0
Abnormal morphology of ulna 10.0
Aplasia/Hypoplasia involving the femoral head and neck 5.0
Aplasia/hypoplasia of the femur 5.0
Dyspnea 5.0
Abnormal rib morphology 5.0
Abnormal femur morphology 5.0
Bowing of the long bones 5.0
Aplasia/hypoplasia of the extremities 35.0
Abnormal lung development 5.0
Bowed forearm bones 5.0
Abnormal delivery 5.0
Lumbar kyphosis 5.0
Abnormality of immune system physiology 15.0
Limited elbow movement 10.0
Abnormal frontal bone morphology 10.0
Abnormality of the calf 5.0
Abnormal ear morphology 20.0
Hyperlordosis 5.0
Abnormal middle ear morphology 10.0
Abnormal foramen magnum morphology 5.0
Abnormal shape of the frontal region 10.0
Abnormal nasal morphology 35.0
Abdominal symptom 5.0
Limb undergrowth 10.0
Growth abnormality 35.0
Abnormal diaphysis morphology 5.0
Limitation of joint mobility 15.0
Disproportionate short stature 15.0
Abnormality of the middle ear 10.0
Airway obstruction 5.0
Aplasia/Hypoplasia involving bones of the thorax 5.0
Abnormal nasal bridge morphology 20.0
Abnormal brainstem morphology 5.0
Increased head circumference 5.0
Aplasia/Hypoplasia of the lungs 5.0
Abnormal curvature of the vertebral column 10.0
Abnormal rib cage morphology 5.0
Spinal canal stenosis 10.0
Recurrent infections 5.0
Abnormal upper limb bone morphology 30.0
Functional abnormality of the middle ear 5.0
Bowing of the legs 5.0
Abnormal zygomatic bone morphology 20.0
Abnormality of the knee 5.0
Abnormal vertebral morphology 15.0
Abnormal morphology of the radius 25.0
Abnormal lower limb bone morphology 20.0
Bowing of the arm 5.0
Metaphyseal widening 5.0
Abnormal greater sciatic notch morphology 5.0
Hearing impairment 25.0
Abnormal form of the vertebral bodies 10.0
Abnormality of the vertebral column 15.0
Abnormal inflammatory response 10.0
Abnormality of the immune system 15.0
Abnormal long bone morphology 30.0
Aplasia/hypoplasia involving bones of the extremities 30.0
Abnormal forearm morphology 25.0
Abnormal choanae morphology 15.0
Abnormal femoral neck morphology 5.0
Abnormal metaphysis morphology 5.0
Abnormal femoral neck/head morphology 5.0
Unusual infection 5.0
Paroxysmal sneezing 5.0
Sneeze 5.0
Constitutional symptom 5.0
Tinnitus 5.0
Visual loss 5.0
Diplopia 5.0
Personality changes 5.0
Cafe-au-lait spot 5.0
Axillary freckling 5.0
Neurofibroma 5.0
Ataxia 5.0
Headache 5.0
Vertigo 5.0
Ependymoma 5.0
Juvenile posterior subcapsular lenticular opacities 5.0
Bilateral vestibular schwannoma 5.0
Unilateral vestibular schwannoma 5.0
Astrocytoma 5.0
Peripheral schwannoma 5.0
Retinal hamartoma 5.0
Lisch nodules 5.0
Peripheral neuropathy 5.0
Inguinal freckling 5.0
Epiretinal membrane 5.0
Cortical cataract 5.0
Optic nerve sheath meningioma 5.0
Visual impairment 5.0
Abnormal fundus morphology 10.0
Cataract 5.0
Abnormality of coordination 5.0
Iris nodule 5.0
Nervous tissue neoplasm 5.0
Meningioma 5.0
Abnormal lens morphology 5.0
Neoplasm of the inner ear 5.0
Hypermelanotic macule 5.0
Abnormal posterior eye segment morphology 10.0
Abnormality of vision 5.0
Neoplasm 10.0
Neoplasm of the peripheral nervous system 5.0
Neuroepithelial neoplasm 5.0
Freckling 5.0
Abnormal macular morphology 5.0
Fibroma 5.0
Abnormality iris morphology 10.0
Abnormal anterior eye segment morphology 15.0
Abnormality of binocular vision 5.0
Macule 5.0
Zonular cataract 5.0
Neoplasm of the nervous system 5.0
Macular thickening 5.0
Neoplasm by anatomical site 10.0
Abnormality of the inner ear 5.0
Neoplasm by histology 5.0
Abnormal cranial nerve morphology 5.0
Posterior subcapsular cataract 5.0
Abnormal central motor function 5.0
Abnormal astrocyte morphology 5.0
Abnormal peripheral nervous system morphology 5.0
Abnormality of skin pigmentation 15.0
Soft tissue sarcoma 5.0
Benign neoplasm of the central nervous system 5.0
Hamartoma of the orbital region 5.0
Hyperpigmentation of the skin 5.0
Sarcoma 5.0
Irregular hyperpigmentation 5.0
Abnormal uvea morphology 10.0
Neoplasm of the ear 5.0
Functional abnormality of the inner ear 5.0
Schwannoma 5.0
Abnormality of the vestibulocochlear nerve 5.0
Hamartoma of the eye 5.0
Neoplasm of the skin 5.0
Vestibular schwannoma 5.0
Abnormal retinal morphology 5.0
Impairment in personality functioning 5.0
Neoplasm of the central nervous system 5.0
Neoplasm of the eye 5.0
Neuroectodermal neoplasm 5.0
Atypical behavior 5.0
Hamartoma 5.0
Abnormal glial cell morphology 5.0
Glioma 5.0
Abnormality of the orbital region 35.0
Fibrous tissue neoplasm 5.0
Abnormal meningeal morphology 10.0
Malignant neoplasm of the central nervous system 5.0
Subcapsular cataract 5.0
Abnormal vestibular function 5.0
Vaginal atresia 5.0
Narrow palate 10.0
Bifid uvula 5.0
High palate 10.0
Thin upper lip vermilion 5.0
Large fontanelles 5.0
Brachyturricephaly 10.0
Delayed cranial suture closure 10.0
Mandibular prognathia 20.0
Hypertelorism 20.0
Broad forehead 5.0
High forehead 10.0
Posteriorly rotated ears 5.0
Low-set ears 10.0
Chronic otitis media 5.0
Choanal atresia 10.0
Anteverted nares 10.0
Downslanted palpebral fissures 15.0
Myopia 5.0
Shallow orbits 15.0
Delayed eruption of teeth 10.0
Dental malocclusion 10.0
Hyperhidrosis 5.0
Acne 5.0
Postaxial hand polydactyly 5.0
Preaxial hand polydactyly 5.0
Agenesis of corpus callosum 5.0
Cerebellar hypoplasia 10.0
Absent septum pellucidum 5.0
Pyloric stenosis 5.0
Esophageal atresia 5.0
Overriding aorta 5.0
Delayed epiphyseal ossification 5.0
Humeroradial synostosis 10.0
Ectopic anus 5.0
Coronal craniosynostosis 15.0
Sagittal craniosynostosis 5.0
Lambdoidal craniosynostosis 10.0
Anomalous tracheal cartilage 5.0
Acrobrachycephaly 5.0
Cervical C5/C6 vertebrae fusion 5.0
Rhizomelic arm shortening 5.0
Synostosis of carpal bones 5.0
Wide intermamillary distance 5.0
Chiari type I malformation 5.0
Posterior fossa cyst 5.0
Abnormal morphology of the limbic system 5.0
Broad distal hallux 5.0
Broad distal phalanx of the thumb 5.0
Cutaneous finger syndactyly 5.0
Cutaneous syndactyly of toes 10.0
Prominent forehead 5.0
Flat face 10.0
Arachnoid cyst 5.0
Abnormal morphology of the nasal alae 15.0
Abnormal posterior cranial fossa morphology 10.0
Broad long bones 10.0
Abnormal hand morphology 35.0
Abnormality of the upper arm 10.0
Tooth malposition 15.0
Duplication of bones involving the upper extremities 10.0
Synostosis involving the elbow 10.0
Abnormality of the outer ear 10.0
Abnormality of skin physiology 5.0
Turricephaly 15.0
Broad phalanx 10.0
Finger syndactyly 10.0
Abnormality of the palpebral fissures 20.0
Synostosis involving bones of the upper limbs 15.0
Vertebral segmentation defect 5.0
Abnormal arachnoid mater morphology 5.0
Abnormal location of ears 10.0
Abnormal septum pellucidum morphology 5.0
Abnormal thumb morphology 10.0
Synostosis involving bones of the hand 5.0
Abnormality of fontanelles 5.0
Abnormal stomach morphology 5.0
Abnormality of upper lip vermillion 5.0
Abnormal ocular adnexa morphology 30.0
Abnormal bone ossification 10.0
Abnormal epiphyseal ossification 10.0
Hand polydactyly 10.0
Abnormal tracheobronchial morphology 10.0
Abnormality of dental eruption 10.0
Preaxial polydactyly 5.0
Abnormal intermamillary distance 5.0
Synostosis of carpals/tarsals 5.0
Abnormal metencephalon morphology 15.0
Abnormal carpal morphology 5.0
Abnormality of refraction 5.0
Postaxial polydactyly 5.0
Abnormal hindbrain morphology 15.0
Abnormal esophagus morphology 5.0
Abnormality of the fontanelles or cranial sutures 15.0
Synostosis of joints 15.0
Abnormal soft palate morphology 5.0
Polydactyly 10.0
Abnormal epiphysis morphology 10.0
Abnormal finger phalanx morphology 20.0
Abnormal external nose morphology 20.0
Gastrointestinal atresia 5.0
Duplication of phalanx of hand 10.0
Abnormality of the gastrointestinal tract 5.0
Abnormal hallux morphology 20.0
Abnormal skull base morphology 10.0
Abnormal facial shape 10.0
Fused cervical vertebrae 5.0
Abnormal tracheal morphology 10.0
Broad distal phalanx of finger 5.0
Abnormal uvula morphology 5.0
Abnormal morphology of bony orbit of skull 15.0
Chiari malformation 10.0
Broad phalanges of the hand 10.0
Cerebellar malformation 10.0
Abnormal 5th finger morphology 10.0
Abnormality of the chin 25.0
Abnormality of globe location 20.0
Broad thumb 10.0
Abnormality of skin adnexa physiology 5.0
Slanting of the palpebral fissure 15.0
Duplication of hand bones 10.0
Abnormality of thumb phalanx 10.0
Broad hallux 10.0
Abnormal nostril morphology 10.0
Aplasia/Hypoplasia of the cerebellum 10.0
Abnormal enchondral ossification 10.0
Genital tract atresia 5.0
Abnormality of cranial sutures 15.0
Abnormal pinna morphology 10.0
Abnormality of the humeroradial joint 15.0
Abnormal distal phalanx morphology of finger 10.0
Cutaneous syndactyly 10.0
Abnormality of the distal phalanx of the thumb 5.0
Broad toe 10.0
Proptosis 15.0
Abnormal bone structure 15.0
Abnormality of the pylorus 5.0
Inflammatory abnormality of the skin 5.0
Vertebral fusion 5.0
Intracranial cystic lesion 5.0
Craniosynostosis 15.0
Abnormality of the ocular adnexa 30.0
Carpal synostosis 5.0
Abnormal eyelid morphology 25.0
Abnormality of the humerus 10.0
Broad finger 10.0
Thin vermilion border 5.0
Hypohidrosis or hyperhidrosis 5.0
Central nervous system cyst 5.0
Abnormal gastrointestinal tract morphology 5.0
Abnormality of the wrist 5.0
Abnormality of the dentition 20.0
Abnormal cerebellum morphology 15.0
Oxycephaly 5.0
Low anterior hairline 5.0
Facial asymmetry 5.0
Hypoplasia of the maxilla 15.0
Convex nasal ridge 5.0
Narrow nose 5.0
Ptosis 5.0
Buphthalmos 5.0
Abnormal nasolacrimal system morphology 5.0
Plagiocephaly 5.0
Hallux valgus 5.0
Intellectual disability, moderate 5.0
Skull asymmetry 5.0
Parietal foramina 5.0
Radioulnar synostosis 5.0
Breast carcinoma 5.0
Long nose 5.0
Clinodactyly of the 5th finger 5.0
Flat forehead 5.0
Microtia 5.0
Prominent crus of helix 5.0
Partial duplication of the distal phalanx of the 2nd finger 5.0
Partial duplication of the distal phalanx of the 3rd finger 5.0
Absent first metatarsal 5.0
Cleft of chin 5.0
Ocular anterior segment dysgenesis 5.0
Mesoaxial hand polydactyly 5.0
Abnormal metatarsal morphology 10.0
Glaucoma 5.0
Abnormal helix morphology 5.0
Abnormal 3rd finger phalanx morphology 5.0
Abnormality of the hairline 10.0
Partial duplication of the phalanges of the 3rd finger 5.0
Mesoaxial polydactyly 5.0
Partial duplication of the phalanges of the 2nd finger 5.0
Abnormality of the phalanges of the 2nd finger 5.0
Polydactyly affecting the 2nd finger 5.0
Abnormal 3rd finger morphology 5.0
Aplasia/hypoplasia of the 1st metatarsal 5.0
Aplasia/Hypoplasia involving bones of the feet 15.0
Abnormal cartilage morphology 5.0
Partial duplication of the distal phalanges of the hand 5.0
Abnormal parietal bone morphology 5.0
Abnormality of the scalp hair 10.0
Abnormally large globe 5.0
Deviation of the hallux 5.0
Developmental glaucoma 5.0
Abnormality of cartilage of external ear 5.0
Deviation of toes 5.0
Polydactyly affecting the 3rd finger 5.0
Abnormal maxilla morphology 15.0
Finger clinodactyly 5.0
Duplication of the distal phalanx of hand 5.0
Abnormal 2nd finger morphology 5.0
Abnormality of the distal phalanx of the 3rd finger 5.0
Congenital abnormal hair pattern 10.0
Abnormal nasal dorsum morphology 5.0
Aplasia/Hypoplasia of the external ear 5.0
Duplication of phalanx of 2nd finger 5.0
Deviation of the hand or of fingers of the hand 5.0
Abnormal hair pattern 10.0
Duplication of phalanx of 3rd finger 5.0
Duplication of the distal phalanx of the 3rd finger 5.0
Aplasia/Hypoplasia of metatarsal bones 10.0
Partial duplication of the phalanx of hand 5.0
Abnormality of the first metatarsal bone 5.0
Duplication of the distal phalanx of the 2nd finger 5.0
Neoplasm of the breast 5.0
Clinodactyly 5.0
Aplasia/Hypoplasia of the ear 5.0
Absent metatarsal bone 5.0
Abnormality of the crus of the helix 5.0
Deviation of the 5th finger 5.0
Abnormality of the distal phalanx of the 2nd finger 5.0
Deviation of finger 5.0
Abnormality of the frontal hairline 10.0
Abnormal scalp morphology 15.0
Dental crowding 5.0
Cloverleaf skull 5.0
Bronchomalacia 5.0
Elbow ankylosis 5.0
Short nose 5.0
Short middle phalanx of toe 5.0
Tracheal cartilaginous sleeve 5.0
Shortening of all middle phalanges of the fingers 5.0
3-4 toe cutaneous syndactyly 5.0
Abnormality of the middle phalanges of the toes 5.0
Aplasia/Hypoplasia of toe 5.0
Aplasia/hypoplasia involving bones of the upper limbs 20.0
Short toe 5.0
Short phalanx of finger 10.0
Ankylosis 5.0
Aplasia/hypoplasia involving bones of the hand 20.0
Short middle phalanx of finger 5.0
Abnormal toe phalanx morphology 5.0
Abnormal bronchus morphology 5.0
Aplasia/Hypoplasia of fingers 5.0
Short finger 5.0
Aplasia/Hypoplasia of the phalanges of the hand 10.0
Abnormal middle phalanx morphology of the hand 5.0
Aplasia/Hypoplasia of the middle phalanges of the hand 5.0
Unilateral renal agenesis 5.0
Hypogonadism 5.0
Epicanthus 5.0
Broad nasal tip 5.0
Blue irides 5.0
Optic atrophy 5.0
Hypodontia 5.0
Congenital hypothyroidism 5.0
Irregular menstruation 5.0
Melanocytic nevus 5.0
Broad palm 5.0
Intrauterine growth retardation 10.0
Small for gestational age 5.0
Mild postnatal growth retardation 5.0
Long hallux 5.0
Scoliosis 5.0
Hyperphosphatemia 5.0
Elevated circulating thyroid-stimulating hormone concentration 5.0
Dislocated radial head 5.0
Elevated circulating parathyroid hormone level 5.0
Elevated circulating calcitonin concentration 5.0
Short palm 10.0
Calvarial hyperostosis 5.0
Accelerated skeletal maturation 5.0
Neonatal epiphyseal stippling 5.0
Hypoplastic vertebral bodies 5.0
Short metacarpal 10.0
Cone-shaped epiphyses of the phalanges of the hand 5.0
Short metatarsal 5.0
Mild global developmental delay 5.0
Decreased growth hormone responses to growth hormone-releasing hormone challenge 5.0
Tooth agenesis 5.0
Abnormality of the menstrual cycle 5.0
Abnormal metacarpal morphology 10.0
Abnormal palm morphology 15.0
Abnormality of thyroid physiology 5.0
Decreased response to growth hormone stimulation test 5.0
Abnormal circulating metabolite concentration 5.0
Long toe 5.0
Abnormal thyroid-stimulating hormone level 5.0
Epiphyseal stippling 5.0
Aplasia/Hypoplasia involving the vertebral column 5.0
Abnormal endocrine physiology 5.0
Abnormality of the anterior pituitary 5.0
Cranial hyperostosis 5.0
Anterior hypopituitarism 5.0
Vertebral hypoplasia 5.0
Ectopic calcification 5.0
Hyperostosis 5.0
Abnormal number of teeth 5.0
Abnormal hand epiphysis morphology 5.0
Acute phase response 5.0
Abnormal blood phosphate concentration 5.0
Abnormal upper limb epiphysis morphology 5.0
Abnormal circulating hormone concentration 5.0
Abnormal optic nerve morphology 5.0
Cone-shaped epiphysis 5.0
Abnormality of the hypothalamus-pituitary axis 5.0
Renal agenesis 5.0
Decreased body weight 5.0
Abnormal pituitary gland morphology 5.0
Abnormal epiphysis morphology of the phalanges of the hand 5.0
Hypothyroidism 5.0
Abnormality of the thyroid gland 5.0
Upper extremity joint dislocation 5.0
Elbow dislocation 5.0
Abnormal nasal tip morphology 10.0
Renal hypoplasia/aplasia 5.0
Abnormality of the radial head 5.0
Abnormal response to endocrine stimulation test 5.0
Abnormal optic disc morphology 5.0
Aplasia/Hypoplasia of the vertebrae 5.0
Abnormal limb epiphysis morphology 5.0
Abnormal iris pigmentation 5.0
Abnormality of metabolism/homeostasis 5.0
Abnormal female reproductive system physiology 5.0
Abnormality of the endocrine system 5.0
Abnormal blood ion concentration 5.0
Abnormal circulating calcitonin concentration 5.0
Postnatal growth retardation 5.0
Abnormality of reproductive system physiology 5.0
Phalangeal cone-shaped epiphyses 5.0
Abnormality of body weight 10.0
Abnormal circulating calcium-phosphate regulating hormone concentration 5.0
Nevus 5.0
Puberty and gonadal disorders 5.0
Aplasia/Hypoplasia involving the metacarpal bones 10.0
Hypopituitarism 5.0
Abnormality of skeletal maturation 5.0
Hypospadias 5.0
Widow's peak 5.0
Prominent nose 5.0
Webbed neck 5.0
Carious teeth 5.0
Single transverse palmar crease 5.0
Cerebellar vermis hypoplasia 5.0
Cerebral cortical atrophy 5.0
Enlarged cisterna magna 5.0
Spina bifida occulta 5.0
Preauricular pit 5.0
Mandibulofacial dysostosis 5.0
Atrophy/Degeneration affecting the cerebrum 5.0
Abnormal skin morphology of the palm 10.0
Craniofacial dysostosis 5.0
Abnormal periauricular region morphology 5.0
High anterior hairline 5.0
Abnormality of the neck 5.0
Abnormal neck morphology 5.0
Abnormal cheek morphology 5.0
Enlarged posterior fossa 5.0
Regional abnormality of skin 15.0
Abnormal penis morphology 5.0
Skin pit 5.0
Abnormal spinal cord morphology 5.0
Atrophy/Degeneration affecting the central nervous system 5.0
Abnormal cerebellar vermis morphology 5.0
Abnormal male urethral meatus morphology 5.0
Brain atrophy 5.0
Cerebral atrophy 5.0
Abnormal palmar dermatoglyphics 5.0
Periauricular skin pits 5.0
Abnormality of dental structure 5.0
Spinal dysraphism 5.0
Abnormality of the palmar creases 5.0
Abnormal dermatoglyphics 5.0
Spina bifida 5.0
Displacement of the urethral meatus 5.0
Aplasia/Hypoplasia of the cerebellar vermis 5.0
Fine hair 5.0
Allergy 5.0
Papule 10.0
Skin plaque 5.0
Abnormality of hair texture 5.0
Immunologic hypersensitivity 5.0
Hyperkeratosis 10.0
Acrokeratosis 10.0
Skin nodule 10.0
Ridged nail 5.0
Punctate palmoplantar hyperkeratosis 5.0
Verrucous papule 5.0
Epidermal acanthosis 5.0
Acantholysis 5.0
Palmoplantar hyperkeratosis 5.0
Palmar hyperkeratosis 5.0
Abnormality of the plantar skin of foot 5.0
Nail dysplasia 5.0
Plantar hyperkeratosis 5.0
Abnormal epidermal morphology 5.0
Symmetric great toe depigmentation 5.0
Tall stature 5.0
Soft skin 5.0
Large hands 10.0
Long foot 5.0
Cutis gyrata of scalp 5.0
Periostosis 5.0
Abnormal elasticity of skin 5.0
Abnormal periosteum morphology 5.0
Sloping forehead 5.0
Bulbous nose 5.0
Telecanthus 5.0
Blepharophimosis 5.0
Synophrys 5.0
Tapered finger 5.0
Specific learning disability 5.0
Large for gestational age 5.0
Deep philtrum 5.0
Highly arched eyebrow 5.0
Thickened calvaria 5.0
Thick nasal alae 5.0
Short 5th metacarpal 5.0
Thick vermilion border 5.0
Hypertrichosis 5.0
Aplasia/Hypoplasia of the 5th metacarpal 5.0
Abnormal size of the palpebral fissures 5.0
Facial hypertrichosis 5.0
Abnormal 5th metacarpal morphology 5.0
Increased body weight 5.0
Abnormal eyebrow morphology 5.0
Abnormality of the philtrum 5.0